Bardet-Biedl Syndrome via the ARL6/BBS3 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8721 ARL6 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8721ARL681479 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder marked by primary features of obesity, polydactyly, pigmentary retinopathy, hypogonadism, renal anomalies, and mental retardation (Elbedour et al. Am J Med Genet 52(2):164-169, 1994; Sheffield. Trans Amer Clin Climatol Assoc 121:172-182, 2010). Secondary features include diabetes, hypertension, and congenital heart defects (Green et al. N Engl J Med 321(15):1002-1009, 1989). Although BBS is a rare condition, diagnosis is complicated by the fact that many of the clinical features (i.e. obesity, diabetes, hypertension, and developmental delay) are common. In addition, many of the BBS clinical features overlap with those of other well-described developmental disorders, including Meckel-Gruber syndrome (MKS; OMIM 249000), Joubert syndrome (JBTS; OMIM 213300), nephronophthisis (NPH; OMIM 256100), Senior-Loken syndrome (SLS; OMIM 609254), Leber congenital amaurosis (LCA; OMIM 204000), and Alstrom syndrome (OMIM 203800).

Genetics

The ARL6/BBS3 gene encodes the ADP-ribosylation factor-like 6 protein (ARL6), and recessive variants in this gene have been shown to cause symptoms of Bardet-Biedl syndrome (Chiang et al. Am J Hum Genet 75(3): 475-484, 2004; Fan et al. Nat Genet 36(9): 989-993, 2004). ARF-like proteins typically regulate intracellular trafficking (Pasqualato et al. EMBO Rep 3(11): 1035-1041, 2002). Although the precise function of the ARL6 protein is not known, it is thought to have a critical role in the intracellular transport of ciliary proteins, including many of the other BBS proteins (Chiang et al. 2004). Both missense and nonsense variants have been reported in the ARL6/BBS3 gene (Chiang et al. 2004; Fan et al. 2004). In addition, gross deletions within the ARL6/BBS3 locus have been reported (Abu Safieh et al. J Med Genet 47(4): 236-241, 2010; Chen et al. Invest Ophthalmol Vis Sci 52(8): 5317-5324, 2010).

Testing Strategy

This test provides full coverage of all coding exons of the ARL6 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Clinical Sensitivity - Sequencing with CNV PG-Select

Variants in the ARL6/BBS3 gene are estimated to cause approximately 1% of BBS cases (Katsanis Hum Mol Genet 13 Spec No 1:R65-71, 2004).

Indications for Test

This test is useful for patients with symptoms of BBS and family members of patients with known variants in the ARL6/BBS3 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ARL6.

Gene

Official Gene Symbol OMIM ID
ARL6 608845
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Bardet-Biedl Syndrome 3 AR 600151

Related Tests

Name
Bardet-Biedl Syndrome via the BBS2 Gene
Bardet-Biedl Syndrome via the BBS4 Gene
Bardet-Biedl Syndrome via the BBS5 Gene
Bardet-Biedl Syndrome via the BBS9 Gene
Bardet-Biedl Syndrome via the MKKS/BBS6 Gene
Bardet-Biedl Syndrome via the TRIM32/BBS11 Gene
Joubert and Meckel-Gruber Syndromes via the CEP290 Gene
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene
Nephronophthisis / Senior-Loken Syndrome and Bardet-Biedl Syndrome via the SDCCAG8 Gene
Retinitis Pigmentosa (includes RPGR ORF15) Panel

Citations

  • Abu Safieh, L. et al. (2010). "Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping." J Med Genet 47(4): 236-241. PubMed ID: 19858128
  • Chen, J. et al. (2011). "Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes." Invest Ophthalmol Vis Sci 52(8): 5317-5324.  PubMed ID: 21642631
  • Chiang, A. P. et.al. (2004). "Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)." Am J Hum Genet 75(3): 475-484. PubMed ID: 15258860
  • Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. 1994. Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. Am. J. Med. Genet. 52: 164–169. PubMed ID: 7802002
  • Fan, Y. et.al. (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome." Nat Genet 36(9): 989-993. PubMed ID: 15314642
  • Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O’Leary E, Pryse-Phillips W. 1989. The cardinal manifestations of Bardet–Biedl syndrome, a form of Laurence–Moon–Biedl syndrome. New England Journal of Medicine 321: 1002–1009. PubMed ID: 2779627
  • Katsanis N. 2004. The oligogenic properties of Bardet-Biedl syndrome. Human Molecular Genetics 13: 65R–71. PubMed ID: 14976158
  • Pasqualato, S. et.al. (2002). "Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for 'front-back' communication." EMBO Rep 3(11): 1035-1041. PubMed ID: 12429613
  • Sheffield, V.C. 2010. The blind leading the obese: the molecular pathophysiology of a human obesity syndrome. Trans Am Clin Climatol Assoc 121:172-182. PubMed ID: 20697559

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

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Requisition Form

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  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


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